Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Journal of medical genetics - 1 Feb 1996

Gu S M, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A

Abstract excerpt

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 955delG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Mutation
Share to Alleles
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to DNA Mutational Analysis

Share to Infant, Newborn

Share to Molecular Sequence Data

Source

Open in PubMed Open full text

Identifiers

PMID: 8929944
DOI: 10.1136/jmg.33.2.103
PMCID: PMC1051833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.PMID 8929944Read ↗

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.Semantic proximity Read ↗

A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Semantic proximity Read ↗

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.Semantic proximity Read ↗

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.Semantic proximity Read ↗

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.Semantic proximity Read ↗

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Semantic proximity Read ↗

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.Semantic proximity Read ↗

A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.Semantic proximity Read ↗

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Semantic proximity Read ↗

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.Semantic proximity Read ↗

[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.